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Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Morgan AT, Scerri TS, Vogel AP, Reid CA, Quach M, Jackson VE, McKenzie C, Burrows EL, Bennett MF, Turner SJ, Reilly S, Horton SE, Block S, Kefalianos E, Frigerio-Domingues C, Sainz E, Rigbye KA, Featherby TJ, Richards KL, Kueh A, Herold MJ, Corbett MA, Gecz J, Helbig I, Thompson-Lake DGY, Liégeois FJ, Morell RJ, Hung A, Drayna D, Scheffer IE, Wright DK, Bahlo M, Hildebrand MS. Morgan AT, et al. Among authors: block s. Brain. 2023 Dec 1;146(12):5086-5097. doi: 10.1093/brain/awad314. Brain. 2023. PMID: 37977818
Nucleotide depletion promotes cell fate transitions by inducing DNA replication stress.
Do BT, Hsu PP, Vermeulen SY, Wang Z, Hirz T, Abbott KL, Aziz N, Replogle JM, Bjelosevic S, Paolino J, Nelson SA, Block S, Darnell AM, Ferreira R, Zhang H, Milosevic J, Schmidt DR, Chidley C, Harris IS, Weissman JS, Pikman Y, Stegmaier K, Cheloufi S, Su XA, Sykes DB, Vander Heiden MG. Do BT, et al. Among authors: block s. Dev Cell. 2024 May 30:S1534-5807(24)00327-7. doi: 10.1016/j.devcel.2024.05.010. Online ahead of print. Dev Cell. 2024. PMID: 38823395
981 results